A Case of XXY Klinefelter Syndrome with Complex Clinical Manifestations
نویسندگان
چکیده
منابع مشابه
A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome
BACKGROUND 47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. CASE PRESENTATION We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for...
متن کاملXXY male mice: an experimental model for Klinefelter syndrome.
Klinefelter syndrome (47,XXY) is the most common sex chromosome aneuploidy in men. Thus, it is important to establish an experimental animal model to explore its underlying molecular mechanisms. Mice with a 41,XXY karyotype were produced by mating wild-type male mice with chimeric female mice carrying male embryonic stem cells. The objectives of the present study were to characterize the testic...
متن کاملClinical report: a case of Williams Syndrome and Klinefelter Syndrome.
INTRODUCTION Williams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are ...
متن کاملXXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study.
OBJECTIVE An extra X chromosome in males (XXY), known as Klinefelter syndrome, is associated with characteristic physical, cognitive, and behavioral features of variable severity. The objective of this study was to examine possible neuroanatomical substrates of these cognitive and behavioral features during childhood and adolescence. METHODS MRI brain scans were acquired for 42 XXY and 87 hea...
متن کاملRare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report
Objectives: To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. Clinical Presentation and Intervention: A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had d...
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ژورنال
عنوان ژورنال: Proceedings of the Japan Academy
سال: 1969
ISSN: 0021-4280
DOI: 10.2183/pjab1945.45.193